Microvillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment.
congenital diarrhea
MVID
UNC45A mutations
intrahepatic cholestasis
microvillous inclusion disease
odevixibat
Journal
ACG case reports journal
ISSN: 2326-3253
Titre abrégé: ACG Case Rep J
Pays: United States
ID NLM: 101638398
Informations de publication
Date de publication:
Oct 2024
Oct 2024
Historique:
received:
29
04
2024
accepted:
17
09
2024
medline:
15
10
2024
pubmed:
15
10
2024
entrez:
15
10
2024
Statut:
epublish
Résumé
Syndromes characterized by congenital diarrhea, hearing loss, and intrahepatic cholestasis are uncommon and often misdiagnosed as progressive familial intrahepatic cholestasis (PFIC). Recent genetic studies have widened the array of genes linked with cholestatic disorders. Among these,
Identifiants
pubmed: 39403551
doi: 10.14309/crj.0000000000001537
pii: ACGCR-24-0421
pmc: PMC11473056
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
e01537Informations de copyright
© 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.